QuyenAnhDE/medical huggingface dataset:
Albright's hereditary osteodystrophy
Definition: An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. [pdf:http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf, url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770]
Synonyms: pseudohypoparathyroidism type 1a
achondrogenesis type IA
Definition: An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
Synonyms: achondrogenesis Houston-Harris type
achondrogenesis type IB
Definition: An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
Synonyms: achondrogenesis Fraccaro type
achondrogenesis type II
Definition: An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 20
Charcot-Marie-Tooth disease type 5
Definition: A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
Synonyms: hereditary motor and sensory neuropathy with pyramidal features
Charcot-Marie-Tooth disease type 6
Definition: A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
Synonyms: hereditary motor and sensory neuropathy type 6
Charcot-Marie-Tooth disease type 7
Definition: A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa.
inclusion-cell disease
Synonyms: mucolipidosis II
pseudo-Hurler polydystrophy
Synonyms: mucolipidosis III
neuronal intestinal dysplasia
spina bifida occulta
neural tube defect
Neu-Laxova syndrome 2
Neu-Laxova syndrome 1
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
nonsyndromic congenital nail disorder 1
Synonyms: twenty-nail dystrophy
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 4
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
nonsyndromic congenital nail disorder 9
nonsyndromic congenital nail disorder 10
tubular aggregate myopathy
reducing body myopathy
spheroid body myopathy
myofibrillar myopathy 1
Synonyms: desminopathy
myofibrillar myopathy 2
Synonyms: alpha-b crystallinopathy
myofibrillar myopathy 3
Synonyms: myotilinopathy
myofibrillar myopathy 4
Synonyms: zaspopathy
myofibrillar myopathy 5
Synonyms: filaminopathy
myofibrillar myopathy 6
Synonyms: BAG3-related myofibrillar myopathy RELATED []
myofibrillar myopathy 7
Synonyms: alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
myopathy, lactic acidosis, and sideroblastic anemia
congenital myopathy
Compton-North congenital myopathy
congenital fiber-type disproportion
cylindrical spirals myopathy
microcephaly and chorioretinopathy 1
Definition: A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. []
microcephaly and chorioretinopathy 2
Definition: A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. []
microcephaly and chorioretinopathy 3
Definition: A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. []
myoglobinuria
infantile myofibromatosis
Definition: A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. []
multiple pterygium syndrome
Definition: A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.  []
intestinal infectious disease
Definition: An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites.
Synonyms: bacterial enteritis
visual cortex disorder due to neoplasm
sensorineural hearing loss
Synonyms: Sensory hearing loss
respiratory syncytial virus bronchiolitis
Definition: A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
Synonyms: viral bronchiolitis
labor complications
Synonyms: Labour complications
thyroid lymphoma
metastatic malignant neoplasm to the thyroid
Synonyms: secondary malignant neoplasm of thyroid gland
polyglandular activity in multiple endocrine adenomatosis
polyglandular dysfunction
multiple endocrine neoplasia type 2B
Definition: An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
Synonyms: Wagenmann-Froboese syndrome
multiple endocrine neoplasia type 1
Definition: An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
Synonyms: Wermer's syndrome
papilledema associated with increased intracranial pressure
endometritis
ampulla of Vater cancer
Synonyms: malignant tumour of ampulla of vater
duodenum cancer
Definition: A small intestine cancer that is located_in the beginning section of the small intestine.
Synonyms: duodenal neoplasm
ampulla of vater neoplasm
Synonyms: tumor of the ampulla of vater
migraine with aura
Definition: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
Synonyms: classic migraine
tabes dorsalis
Definition: A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction.
Synonyms: Tabes dorsalis - neurosyphilis
pelvic inflammatory disease
Synonyms: PID
interstitial emphysema
compensatory emphysema
hyperlucent lung
cycloplegia
Synonyms: Paresis of accommodation
eye accommodation disease
asymptomatic neurosyphilis
Definition: A tertiary neurosyphilis that results_in mild meningitis.
old burn scar-related melanoma of skin
late congenital syphilis
Definition: A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
Synonyms: juvenile neurosyphilis
malignant eyelid melanoma
dysplastic nevus syndrome
Synonyms: FAMM syndrome
regressing skin melanoma
Synonyms: regressing malignant melanoma of the skin
balloon cell malignant melanoma
malignant giant pigmented nevus melanoma
Synonyms: skin melanoma in Giant Pigmented nevus
nodular malignant melanoma
Definition: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
Synonyms: nodular melanoma (morphologic abnormality)
malignant junctional nevus melanoma
Synonyms: melanoma in Junctional nevus
desmoplastic melanoma
Definition: A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
endometrial disease
malignant skin blue nevus
Synonyms: Blue nevus-Like melanoma
skin amelanotic melanoma
Synonyms: skin amelanotic malignant melanoma
Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium
syphilitic acoustic neuritis
Definition: A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
subglottis neoplasm
Synonyms: Subglottic tumor
larynx leiomyoma
larynx squamous papilloma
syphilitic meningitis
hymenolepiasis
Definition: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
Synonyms: Hymenolepis infectious disease
diphyllobothriasis
Definition: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
Synonyms: fish tapeworm
cysticercosis
Definition: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
Synonyms: tenia solium infectious disease
sparganosis
Definition: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
Synonyms: Sparganosis [larval diphyllobothriasis]
syphilitic encephalitis
Synonyms: Syphilis encephalitis
gastric leiomyoma
Synonyms: leiomyoma of the stomach
intracranial abscess
Congenital or acquired abnormality of vagina, with delivery
sleeping sickness
Definition: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
Synonyms: African trypanosomiasis
trypanosomiasis
Definition: A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
Trypanosoma brucei rhodesiense infectious disease
Definition: A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
Synonyms: trypanosoma rhodesiense infectious disease
Trypanosoma brucei gambiense infectious disease
Definition: A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
Synonyms: West African trypanosomiasis
eyelid degenerative disease
degenerative disorder of eyelid and periocular area
hyperpigmentation of eyelid
Synonyms: dyspigmentation of eyelid
pigmentation disease
corneal disease
acute hydrops keratoconus
Synonyms: Keratoconus, acute hydrops
keratoconus
Definition: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Synonyms: conical cornea
cerebral artery occlusion
venous insufficiency
Definition: A vein disease that is characterized by impaired flow of blood through the veins.
Synonyms: peripheral venous insufficiency
psychologic vaginismus
Synonyms: Psychogenic Vaginismus
psychosexual disorder
xerophthalmia
Synonyms: Conjunctival xerosis
conjunctival degeneration
dry eye syndrome
Synonyms: Tear film insufficiency
asthenopia
Synonyms: Accommodative strain
Chlamydia trachomatis peritonitis
Synonyms: venereal disease of peritoneum due to Chlamydia trachomatis
secondary malignant neoplasm to the thymus
Synonyms: metastatic tumor to the Thymus
metastases to mediastinum
Synonyms: secondary malignant neoplasm of mediastinum
thymus lymphoma
long bones of lower limb cancer
Definition: A bone cancer that is manifested in the long bones of the lower limb.
Synonyms: malignant neoplasm of long bones of leg
lower limb cancer
Definition: A malignant neoplasm that is manifested in the lower limb.
Synonyms: malignant neoplasm of lower limb
malignant neoplasm of short bones of lower limb
Synonyms: malignant neoplasm of short bones of leg
Meckel's diverticulum cancer
Synonyms: Meckel diverticulum cancer
ileum cancer
Definition: A small intestine cancer that is located_in the ileum.
Synonyms: malignant neoplasm of ileum
small intestine cancer
Definition: An intestinal cancer that is located_in the small intestine.
intestinal cancer
Definition: A gastrointestinal system cancer that is located_in the intestine.
Synonyms: malignant neoplasm of intestine
ileal neoplasm
Synonyms: tumor of ileum (disorder)
osteonecrosis
Definition: An ischemic bone disease that results_in necrosis located_in bone.
Synonyms: bone necrosis
primary tuberculosis
tuberculous myelitis
Synonyms: Tuberculous abscess of spinal cord
lacrimal passage granuloma
Synonyms: Granuloma of lacrimal passages
optic papillitis
Synonyms: papillitis
neuroretinitis
Synonyms: Papilloretinitis
malignant hypertensive renal disease
diabetic peripheral angiopathy
endobronchial lipoma
spindle cell lipoma
Definition: A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
Synonyms: spindle cell lipoma (morphologic abnormality)
esophageal lipoma
Synonyms: Lipoma of esophagus
skin lipoma
Synonyms: Lipomatous tumor of skin
osteomyelitis
Definition: A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
liver lipoma
Synonyms: Lipoma of the Liver
autosomal deletion syndrome
pleomorphic lipoma
Definition: A lipoma that is characterized by floret giant cells with overlapping nuclei.
Synonyms: Pleomorphic lipoma (morphologic abnormality)
classic type lipoma
kidney lipoma
Synonyms: Lipoma of kidney
pleural lipoma
Synonyms: Lipoma of Pleura
breast lipoma
Synonyms: Lipoma of breast (disorder)
chest wall lipoma
Synonyms: Lipoma of the Chest Wall
gallbladder lipoma
Synonyms: Lipoma of the gallbladder
lipoma of intrathoracic organ
Synonyms: Lipoma of intrathoracic organs (disorder)
external auditory meatus lipoma
Synonyms: Lipoma of the External ear
lipoma of intra-abdominal organ
Synonyms: Lipoma of intra-abdominal organs (disorder)
axillary lipoma
Definition: An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
Synonyms: Lipoma of axilla (disorder)
lipoma of spermatic cord
Synonyms: Spermatic Cord Lipoma
paratesticular lipoma
chondroid lipoma
Definition: A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
Synonyms: Chondroid lipoma (morphologic abnormality)
extrahepatic bile duct lipoma
Synonyms: Lipoma of the extrahepatic bile duct
calculus of gallbladder and bile duct without cholecystitis
Synonyms: calculus of gallbladder and bile duct without cholecystitis, with obstruction
cholelithiasis
pinta disease
Definition: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
failed induction
Synonyms: Failed mechanical induction of labor, antepartum
polymyositis
dermatomyositis
Definition: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
Synonyms: Polymyositis with skin involvement
single episode manic disorder
partial epilepsy, with impairment of consciousness, with intractable epilepsy
borderline leprosy
Definition: A leprosy that results in small numerous red irregularly shaped plaques.
Synonyms: Midborderline leprosy (disorder)
aortic atherosclerosis
Synonyms: Atherosclerosis of aorta (disorder)
Histoplasma capsulatum pericarditis
Definition: An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
Synonyms: Histoplasma capsulatum with pericarditis (disorder)
histoplasmosis pericarditis
Synonyms: Histoplasmosis with pericarditis (disorder)
Brown's tendon sheath syndrome
Synonyms: Brown's sheath syndrome
exhibitionism
pelvic cancer
Definition: A malignant neoplasm that is manifested in the pelvic region.
Synonyms: pelvis neoplasm
malignant neoplasm of rectum, rectosigmoid junction and anus
Synonyms: malignant neoplasm of rectum, rectosigmoid junction, and anus
malignant neoplasm of pelvic bones, sacrum and coccyx
Synonyms: malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)
leprosy
Definition: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
malignant neoplasm of pelvis
Synonyms: malignant tumor of pelvis (disorder)
thalassemia
Synonyms: thalassemia Hb-S disease without crisis
ehrlichiosis
Definition: A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
Synonyms: human ehrlichiosis
delayed separation of umbilical cord
pleurisy
Definition: A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
tuberculoid leprosy
Definition: A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
Synonyms: type T leprosy
louping ill
Definition: A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs.
Synonyms: Louping ill
strawberry gallbladder
Synonyms: Cholesterolosis of gallbladder (disorder)
conjunctival degenerations and deposits
Synonyms: Conjunctival degenerations and deposits (disorder)
vitamin A deficiency with conjunctival xerosis
Synonyms: vitamin A deficiency with conjunctival xerosis (disorder)
vitamin A deficiency
discharging ear
Mumps virus hepatitis
Definition: A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
Synonyms: Mumps hepatitis (disorder)
mumps
Definition: A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
hairy cell leukemia of spleen
Synonyms: Leukemic reticuloendotheliosis of spleen (disorder)
subendocardial infarction acute myocardial infarction
left bundle branch hemiblock
Synonyms: Left bundle branch hemiblock NOS (disorder)
heart conduction disease
Definition: A cardiovascular system disease that involves the heart's electrical conduction system.
Synonyms: heart rhythm disease
schizo-affective type schizophrenia in remission
Pseudomonas intestinal infectious disease
Definition: A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
Synonyms: intestinal infectious disease due to pseudomonas
Vasa previa complicating labor and delivery
Synonyms: Vasa previa complicating labor and delivery, unspecified as to episode of care
Vasa previa
Synonyms: Vasa previa unspecified (disorder)
Vasa previa complicating labor and delivery, delivered
prostate cancer
Definition: A male reproductive organ cancer that is located_in the prostate.
Synonyms: tumor of the prostate
prostate carcinoma
Definition: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Synonyms: carcinoma of prostate (disorder)
prostate squamous cell carcinoma
Synonyms: squamous cell carcinoma of the prostate
metastasis to prostate
Synonyms: secondary malignant neoplasm of prostate (disorder)
prostate malignant phyllodes tumor
Synonyms: malignant Phyllodes neoplasm of the prostate
familial periodic paralysis
prostate lymphoma
Synonyms: Lymphoma of the prostate
monocular esotropia